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Carney complex, type 1(CNC1)

MedGen UID:
388559
Concept ID:
C2607929
Disease or Syndrome
Synonyms: CARNEY MYXOMA-ENDOCRINE COMPLEX; CNC1
 
PRKAR1A (17q24.2)
 
Monarch Initiative: MONDO:0008057
OMIM®: 160980
Authors:

Additional description

From MedlinePlus Genetics
Carney complex is a disorder characterized by an increased risk of several types of tumors. Affected individuals also usually have changes in skin coloring (pigmentation). Signs and symptoms of this condition commonly begin in the teens or early adulthood.

Individuals with Carney complex are at increased risk of developing noncancerous (benign) tumors called myxomas in the heart (cardiac myxoma) and other parts of the body. Cardiac myxomas may be found in any of the four chambers of the heart and can develop in more than one chamber. These tumors can block the flow of blood through the heart, causing serious complications or sudden death. Myxomas may also develop on the skin and in internal organs. Skin myxomas appear as small bumps on the surface of the skin or as lumps underneath the skin. In Carney complex, myxomas have a tendency to recur after they are removed.

Individuals with Carney complex also develop tumors in hormone-producing (endocrine) glands, such as the adrenal glands located on top of each kidney. People with this condition may develop a specific type of adrenal disease called primary pigmented nodular adrenocortical disease (PPNAD). PPNAD causes the adrenal glands to produce an excess of the hormone cortisol. High levels of cortisol (hypercortisolism) can lead to the development of Cushing syndrome. This syndrome causes weight gain in the face and upper body, slowed growth in children, fragile skin, fatigue, and other health problems.

People with Carney complex may also develop tumors of other endocrine tissues, including the thyroid, testes, and ovaries. A tumor called an adenoma may form in the pituitary gland, which is located at the base of the brain. A pituitary adenoma usually results in the production of too much growth hormone. Excess growth hormone leads to acromegaly, a condition characterized by large hands and feet, arthritis, and "coarse" facial features.

Some people with Carney complex develop a rare tumor called psammomatous melanotic schwannoma. This tumor occurs in specialized cells called Schwann cells, which wrap around and insulate nerves. This tumor is usually benign, but in some cases it can become cancerous (malignant).

Almost all people with Carney complex have areas of unusual skin pigmentation. Brown skin spots called lentigines may appear anywhere on the body but tend to occur around the lips, eyes, or genitalia. In addition, some affected individuals have at least one blue-black mole called a blue nevus.  https://medlineplus.gov/genetics/condition/carney-complex

Clinical features

From HPO

Term Hierarchy

Professional guidelines

PubMed

Coopmans EC, Korbonits M
Clin Endocrinol (Oxf) 2022 Oct;97(4):424-435. Epub 2022 Mar 29 doi: 10.1111/cen.14706. PMID: 35349723
Keil MF, Stratakis CA
Expert Rev Neurother 2008 Apr;8(4):563-74. doi: 10.1586/14737175.8.4.563. PMID: 18416659Free PMC Article

Recent clinical studies

Etiology

Peiling Yang S, Ngeow J
Endocr Relat Cancer 2016 Dec;23(12):R577-R595. Epub 2016 Nov 2 doi: 10.1530/ERC-16-0067. PMID: 27807061
Nosé V
Adv Anat Pathol 2010 Nov;17(6):428-36. doi: 10.1097/PAP.0b013e3181f8b028. PMID: 20966648
Dotto J, Nosé V
Adv Anat Pathol 2008 Nov;15(6):332-49. doi: 10.1097/PAP.0b013e31818a64af. PMID: 18948764
Nosé V
Endocr Pathol 2008 Winter;19(4):226-40. doi: 10.1007/s12022-008-9045-z. PMID: 18931957

Diagnosis

Peiling Yang S, Ngeow J
Endocr Relat Cancer 2016 Dec;23(12):R577-R595. Epub 2016 Nov 2 doi: 10.1530/ERC-16-0067. PMID: 27807061
Dotto J, Nosé V
Adv Anat Pathol 2008 Nov;15(6):332-49. doi: 10.1097/PAP.0b013e31818a64af. PMID: 18948764

Supplemental Content

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